AutismKB 2.0

Annotation Detail for ARID1A


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Basic Information Top
Gene Symbol:ARID1A ( B120,BAF250,BAF250a,BM029,C1orf4,P270,SMARCF1 )
Gene Full Name: AT rich interactive domain 1A (SWI-like)
Band: 1p36.11
Quick LinksEntrez ID:8289; OMIM: 603024; Uniprot ID:ARI1A_HUMAN; ENSEMBL ID: ENSG00000117713; HGNC ID: 11110
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body17 / 70761240
blastocyst8 / 62319128
fetus52 / 56401292
neonate6 / 31097192
infant0 / 236200 
juvenile1 / 5555617
adult257 / 1939121132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor15 / 94178159
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor21 / 114246183
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor31 / 263845117
glioma3 / 10688328
head and neck tumor23 / 136302168
kidney tumor5 / 6895972
leukemia19 / 95842198
liver tumor3 / 9635931
lung tumor4 / 10312738
lymphoma4 / 7175555
non-neoplasia5 / 9725051
normal252 / 336030774
ovarian tumor7 / 7668291
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer25 / 102680243
retinoblastoma5 / 46356107
skin tumor16 / 124949128
soft tissue/muscle tissue tumor24 / 125191191
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood21 / 123478170
bone3 / 7165541
bone marrow1 / 4880120
brain69 / 110098962
cervix1 / 4817120
connective tissue4 / 14925526
ear5 / 16212308
embryonic tissue33 / 215722152
esophagus0 / 202090 
eye13 / 21105461
heart5 / 8962655
intestine34 / 234472145
kidney7 / 21177733
larynx3 / 24145124
liver5 / 20774324
lung23 / 33697468
lymph3 / 4427067
lymph node9 / 9161098
mammary gland42 / 153271274
mouth11 / 67052164
muscle15 / 107715139
nerve0 / 157680 
ovary8 / 10205178
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx10 / 41328241
pituitary gland1 / 1658560
placenta36 / 280825128
prostate34 / 189345179
salivary gland0 / 201550 
skin20 / 21057494
spleen11 / 53952203
stomach8 / 9661982
testis23 / 33044269
thymus12 / 81131147
thyroid5 / 47473105
tonsil2 / 16999117
trachea5 / 5241395
umbilical cord7 / 13680511
uterus10 / 23287842
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212152_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts316.6
Adipocyte39.6
AdrenalCortex50.05
Adrenalgland64.3
Amygdala90.75
Appendix25.45
AtrioventricularNode19.35
BDCA4+_DentriticCells139.35
Bonemarrow133.65
BronchialEpithelialCells30.55
CD105+_Endothelial71.35
CD14+_Monocytes156.6
CD19+_BCells(neg._sel.)156.65
CD33+_Myeloid334
CD34+234.55
CD4+_Tcells219.1
CD56+_NKCells133.5
CD71+_EarlyErythroid58.3
CD8+_Tcells407.85
CardiacMyocytes34.35
Caudatenucleus47.85
Cerebellum87.95
CerebellumPeduncles68.4
CiliaryGanglion18.3
CingulateCortex43.55
Colorectaladenocarcinoma69.65
DorsalRootGanglion13.6
FetalThyroid129.15
Fetalbrain64.4
Fetalliver51.3
Fetallung52.4
GlobusPallidus32.65
Heart49.25
Hypothalamus36.05
Kidney52.9
Leukemia_chronicMyelogenousK-56258.15
Leukemia_promyelocytic-HL-6064.9
Leukemialymphoblastic(MOLT-4)110.85
Liver62.45
Lung155.35
Lymphnode59.65
Lymphoma_burkitts(Daudi)138.3
Lymphoma_burkitts(Raji)184
MedullaOblongata54.5
OccipitalLobe60.6
OlfactoryBulb55.8
Ovary23.6
Pancreas23.6
PancreaticIslet36.7
ParietalLobe53.15
Pituitary51.75
Placenta96.15
Pons46
PrefrontalCortex236.15
Prostate100.25
Salivarygland36.75
SkeletalMuscle23.5
Skin29.7
SmoothMuscle64.65
Spinalcord57.3
SubthalamicNucleus47.6
SuperiorCervicalGanglion17.45
TemporalLobe21.2
Testis68.15
TestisGermCell72.55
TestisIntersitial55.95
TestisLeydigCell45.65
TestisSeminiferousTubule51.35
Thalamus56.7
Thymus234.05
Thyroid160.15
Tongue42
Tonsil135.1
Trachea44.2
TrigeminalGanglion29.65
Uterus52.65
UterusCorpus25.1
WholeBlood175.05
Wholebrain74.7
colon56.8
pineal_day297.1
pineal_night222.58
retina198.275
small_intestine55.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P77219
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala3.36 ± 0.63
Basal Forebrain3.12 ± 0.33
Basal Part of Pons2.71 ± 0.52
Cerebellar Cortex3.38 ± 0.59
Cerebellar Nuclei2.99 ± 0.48
Claustrum3.4 ± 0.96
Epithalamus2.88 ± 0.4
Frontal Lobe2.97 ± 0.67
Globus Pallidus3.44 ± 0.43
Hypothalamus2.93 ± 0.62
Insula2.9 ± 0.68
Limbic Lobe3.13 ± 0.66
Mesencephalon3.17 ± 0.66
Myelencephalon3.17 ± 0.67
Occipital Lobe3.31 ± 0.69
Parietal Lobe3.11 ± 0.71
Pontine Tegmentum3.17 ± 0.76
Striatum3.06 ± 0.77
Subthalamus2.96 ± 0.81
Temporal Lobe3.11 ± 0.61
Thalamus3.18 ± 0.75
White Matter3.37 ± 0.98
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arid1aCBCerebellum28.52
30.5
Arid1aCTXCerebral cortex45.64
31.56
Arid1aHIPHippocampal region27.17
28.32
Arid1aHPFHippocampal formation31.77
28.62
Arid1aHYHypothalamus24.19
17.43
Arid1aLSXLateral septal complex29.47
19.97
Arid1aMBMidbrain25.43
21.01
Arid1aMYMedulla41.87
40.77
Arid1aOLFOlfactory bulb63.16
52.75
Arid1aPPons35.29
31.73
Arid1aPALPallidum33.07
26.46
Arid1aRHPRetrohippocampal region41.81
30.21
Arid1asAMYStriatum-like amygdalar nuclei35.46
23.87
Arid1aSTRStriatum37.98
25.55
Arid1aSTRdStriatum dorsal region38.26
25.95
Arid1aSTRvStriatum ventral region44.34
28.67
Arid1aTHThalamus41.21
31.08
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ARI1A_HUMAN_1129 17 1129 1145 QSTGSAPQGPAYHGVNR PRIDE
ARI1A_HUMAN_1631 7 1631 1637 LILLHHK PRIDE
ARI1A_HUMAN_841 14 841 854 MSYEPNKDPYGSMR PRIDE
PAp00007665 17 1863 1879 TELLPSRPHAPCPPAPR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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